..However, the propensity for subtelomeres to interchange is a double-edged sword, as extensive subtelomeric homology can mediate deleterious rearrangements of the ends of chromosomes to cause human disease...

New developments in genetic diagnosis: implications for the craniofacial surgeon

..Future testing may include exome or whole-genome sequencing. In this article, we will discuss indications for genetic consultation and review current and future gene testing options for craniofacial conditions...

..GRIN2A mutations are restricted to this group of cases, which has important ramifications for diagnostic testing and treatment and provides new insights into the pathogenesis of this debilitating group of conditions. ..

Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era

..These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome...

..More generally, this approach offers a previously unavailable balance between customization, cost, and throughput for analysis of CNVs and should prove valuable for targeted CNV detection in both research and diagnostic settings...

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

..Implementation of this rapid and efficient method will change diagnosis and understanding of the molecular etiologies of these disorders. ..

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

Saul A MullenFrom the Florey Institute of Neuroscience and Mental Health S A M, I E S, Epilepsy Research Centre, Department of Medicine, Austin and Northern Health S B, S F B, I E S, and Department of Paediatrics, Royal Children s Hospital I E S, University of Melbourne, Australia Department of Pediatrics G L C, H C M, Division of Genetic Medicine, University of Washington, Seattle and Epilepsy Research Program, School of Pharmacy and Medical Sciences M A B, L M D, and Sansom Institute for Health Research M A B, L M D, University of South Australia, AdelaideNeurology 81:1507-14. 2013

..We examined whether copy number variants (CNVs) were more common in those with a combination of intellectual disability (ID) and genetic generalized epilepsy (GGE) than in those with either phenotype alone via a case-control study...

..We also identified the reciprocal duplication, which appears to be enriched in samples from patients with epilepsy. We describe the first example of a recurrent genomic disorder associated with diabetes...

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome

..Our data support associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a β-catenin-chromatin-remodeling network to ASD etiology...